A Case Report of lymphohistiocytic Hemophagocytosis Syndrome with Syntaxin11(STX11) Positive Gene and Co-Infection with Leishmania
Abstract
Hemophagocytic lymphohistiocytic syndrome is a rare, significant, and life-threatening disease. We are reporting this case with the hope that it may contribute to saving some patients if treated appropriately. A 4-year-old boy presented with fever and pancytopenia. He was treated based on the symptoms that matched the criteria of (HLH). Furthermore, the bone marrow biopsy report revealed the presence of Leishman’s bodies.Hemophagocytic lymphohistiocytic syndrome is a rare, important and life-threatening disease that we are reporting this case due to the hope of saving some patients if treated. A 4-year-old boy with fever and pancytopenia, who was treated according to the symptoms matching the criteria of HLH, as well as the bone marrow biopsy report showing Leishman’s bodies.HLH is a life-threatening disease based on cumulative increase and unrestricted excessive activity of T lymphocytes, cytokines and macrophages, which occurs in two primary and secondary forms, which requires the rejection of all risk factors, symptoms similar to the disease, including infections, lymphoproliferative and autoimmune diseases and other causes, and after ruling out other causes, the patient should be treated quickly with the treatment protocol of this disease, which is reported.due to the rarity of this disease and the urgent need for timely diagnosis and treatment; we are trying to report this patient.
[1] Hashemieh M, Sobhani Araghi A. Acquired hemophagocytic lym- phohistiocytosis: a case report. Iran J Pediatr. 2006;16(3):343- 348.
[2] Henter JI, Horne A, Aricó M, Egeler RM, Filipovich AH, Imashuku S, Ladisch S, McClain K, Webb D, Winiarski J, Janka G. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124- 31.https://doi.org/10.1002/pbc.21039
[3] Aricò M, Janka G, Fischer A, Henter JI, Blanche S, Elinder G, Mar- tinetti M, Rusca MP. Hemophagocytic lymphohistiocytosis. Re- port of 122 children from the International Registry. FHL Study Group of the Histiocyte Society. Leukemia. 1996;10(2):197- 203.
[4] Janka GE, Schneider EM. Modern management of children with haemophagocytic lymphohistiocytosis. Br J Haema- tol. 2004;124(1):4-14.https://doi.org/10.1046/j.1365- 2141.2003.04726.x
[5] Grom AA. Macrophage activation syndrome and reactive he- mophagocytic lymphohistiocytosis: the same entities? Curr Opin Rheumatol. 2003;15(5):587-90.https://doi. org/10.1097/00002281-200309000-00011
[6] Eishii I, Ueda I, Shirakawa R, Yamamoto K, Horiuchi H, et al. Ge- netic subtypes of familial hemophagocytic lymphohistiocy- tosis: correlations with clinical features and cytotoxic T lym- phocyte/natural killer cell functions. Blood. 2005.https://doi. org/10.1182/blood-2004-08-3296
[7] Standage SW, Filipovich AH. Hemophagocytic Lymphohistiocy- tosis Syndromes. Pediatr Crit Care Med. 2014;385-93.https:// doi.org/10.1007/978-1-4471-6416-6_26
[8] Neycheva S, Oparanov B, Kamburova A, Karalilova R, Stoeva V. Hemophagocytic Lymphohistiocytosis Triggered by Leishman- iasis: A Case Report and Literature Review. Am J Case Rep. 2021;22:e933012.https://doi.org/10.12659/AJCR.933012
[9] Zhang Z, Wang J, Ji B, Bahr Greenwood Tv, Zhang Y, Wang Y, Kong D, Li A, Jiang Y, Guo Y, Liu X, Wang Y, Dou A, Li N, Henter JI, Sun G, Zheng C. Clinical presentation of hemophagocytic lym- phohistiocytosis in adults is less typical than in children. Clin- ics (Sao Paulo). 2016;71(4):205-9.https://doi.org/10.6061/ clinics/2016(04)05
[10] Pastula DM, Burish M, Reis GF, Bollen A, Cha S, Ralph J, Doug-las VC. Adult-onset central nervous system hemophagocytic lymphohistiocytosis: a case report. BMC Neurol. 2015;15:203. https://doi.org/10.1186/s12883-015-0470-6
[11] Singh S. New developments in diagnosis of leishmaniasis. Indian J Med Res. 2006;123(3):311-30.
[12] Singh G, Shabani-Rad MT, Vanderkooi OG, Vayalumkal JV, Kuhn SM, Guilcher GM, Steele M. Leishmania in HLH: a rare finding with significant treatment implications. J Pediatr He- matol Oncol. 2013;35(3):e127-9.https://doi.org/10.1097/ MPH.0b013e318286d619
[13] Seguin A, Galicier L, Boutboul D, Lemiale V, Azoulay E. Pulmo- nary Involvement in Patients With Hemophagocytic Lym- phohistiocytosis. Chest. 2016;149(5):1294-301.https://doi. org/10.1016/j.chest.2015.11.004
[14] Li J, Wang Q, Zheng W, Ma J, Zhang W, Wang W, Tian X. He- mophagocytic lymphohistiocytosis: clinical analysis of 103 adult patients. Medicine (Baltimore). 2014;93(2):100-105. https://doi.org/10.1097/MD.0000000000000022
[15] La Rosée P, Horne A, Hines M, von Bahr Greenwood T, Macho- wicz R, Berliner N, Birndt S, Gil-Herrera J, Girschikofsky M, Jordan MB, Kumar A, van Laar JAM, Lachmann G, Nichols KE, Ramanan AV, Wang Y, Wang Z, Janka G, Henter JI. Recommen- dations for the management of hemophagocytic lymphohis- tiocytosis in adults. Blood. 2019;133(23):2465-2477.https:// doi.org/10.1182/blood.2018894618
[16] Singh S, Sivakumar R. Recent advances in the diagnosis of leishmaniasis. J Postgrad Med. 2003;49(1):55-60.https://doi. org/10.4103/0022-3859.927
[17] Sultanova AK, Kim SK, Lee JW, Jang PS, Chung NG, Cho B, Park J, Kim Y, Kim M. A Novel Syntaxin 11 Gene (STX11) Muta- tion c.650T>C, p.Leu217Pro, in a Korean Child With Famil- ial Hemophagocytic Lymphohistiocytosis. Ann Lab Med. 2016;36(2):170-3.https://doi.org/10.3343/alm.2016.36.2.170
[18] Janka GE. Familial hemophagocytic lymphohistiocytosis. Eur J Pediatr. 1983;140(3):221-30.https://doi.org/10.1007/ BF00443367
[19] Henter JI, Aricò M, Elinder G, Imashuku S, Janka G. Familial hemophagocytic lymphohistiocytosis. Primary hemophago- cytic lymphohistiocytosis. Hematol Oncol Clin North Am. 1998;12(2):417-33.https://doi.org/10.1016/S0889- 8588(05)70520-7
[20] Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286(5446):1957-9.https:// doi.org/10.1126/science.286.5446.1957
[21] zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Ka- bisch H, Schneppenheim R, Nürnberg P, Janka G, Hennies HC. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet. 2005;14(6):827-34.https://doi. org/10.1093/hmg/ddi076
[22] Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechen- steen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjöld M, Henter JI, Long EO, Ljunggren HG. Defective cytotoxic lymphocyte degranulation in syntax- in-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood. 2007;110(6):1906-15.https://doi. org/10.1182/blood-2007-02-074468
[23] Horne A, Ramme KG, Rudd E, Zheng C, Wali Y, al-Lamki Z, Gürgey A, Yalman N, Nordenskjöld M, Henter JI. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Hae- matol. 2008;143(1):75-83.https://doi.org/10.1111/j.1365- 2141.2008.07315.x
[24] Rudd E, Göransdotter Ericson K, Zheng C, Uysal Z, Ozkan A, Gürgey A, Fadeel B, Nordenskjöld M, Henter JI. Spectrum and clinical implications of syntaxin 11 gene mutations in familial hae- mophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. J Med Genet. 2006;43(4):e14.https://doi.org/10.1136/jmg.2005.035253
[2] Henter JI, Horne A, Aricó M, Egeler RM, Filipovich AH, Imashuku S, Ladisch S, McClain K, Webb D, Winiarski J, Janka G. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124- 31.https://doi.org/10.1002/pbc.21039
[3] Aricò M, Janka G, Fischer A, Henter JI, Blanche S, Elinder G, Mar- tinetti M, Rusca MP. Hemophagocytic lymphohistiocytosis. Re- port of 122 children from the International Registry. FHL Study Group of the Histiocyte Society. Leukemia. 1996;10(2):197- 203.
[4] Janka GE, Schneider EM. Modern management of children with haemophagocytic lymphohistiocytosis. Br J Haema- tol. 2004;124(1):4-14.https://doi.org/10.1046/j.1365- 2141.2003.04726.x
[5] Grom AA. Macrophage activation syndrome and reactive he- mophagocytic lymphohistiocytosis: the same entities? Curr Opin Rheumatol. 2003;15(5):587-90.https://doi. org/10.1097/00002281-200309000-00011
[6] Eishii I, Ueda I, Shirakawa R, Yamamoto K, Horiuchi H, et al. Ge- netic subtypes of familial hemophagocytic lymphohistiocy- tosis: correlations with clinical features and cytotoxic T lym- phocyte/natural killer cell functions. Blood. 2005.https://doi. org/10.1182/blood-2004-08-3296
[7] Standage SW, Filipovich AH. Hemophagocytic Lymphohistiocy- tosis Syndromes. Pediatr Crit Care Med. 2014;385-93.https:// doi.org/10.1007/978-1-4471-6416-6_26
[8] Neycheva S, Oparanov B, Kamburova A, Karalilova R, Stoeva V. Hemophagocytic Lymphohistiocytosis Triggered by Leishman- iasis: A Case Report and Literature Review. Am J Case Rep. 2021;22:e933012.https://doi.org/10.12659/AJCR.933012
[9] Zhang Z, Wang J, Ji B, Bahr Greenwood Tv, Zhang Y, Wang Y, Kong D, Li A, Jiang Y, Guo Y, Liu X, Wang Y, Dou A, Li N, Henter JI, Sun G, Zheng C. Clinical presentation of hemophagocytic lym- phohistiocytosis in adults is less typical than in children. Clin- ics (Sao Paulo). 2016;71(4):205-9.https://doi.org/10.6061/ clinics/2016(04)05
[10] Pastula DM, Burish M, Reis GF, Bollen A, Cha S, Ralph J, Doug-las VC. Adult-onset central nervous system hemophagocytic lymphohistiocytosis: a case report. BMC Neurol. 2015;15:203. https://doi.org/10.1186/s12883-015-0470-6
[11] Singh S. New developments in diagnosis of leishmaniasis. Indian J Med Res. 2006;123(3):311-30.
[12] Singh G, Shabani-Rad MT, Vanderkooi OG, Vayalumkal JV, Kuhn SM, Guilcher GM, Steele M. Leishmania in HLH: a rare finding with significant treatment implications. J Pediatr He- matol Oncol. 2013;35(3):e127-9.https://doi.org/10.1097/ MPH.0b013e318286d619
[13] Seguin A, Galicier L, Boutboul D, Lemiale V, Azoulay E. Pulmo- nary Involvement in Patients With Hemophagocytic Lym- phohistiocytosis. Chest. 2016;149(5):1294-301.https://doi. org/10.1016/j.chest.2015.11.004
[14] Li J, Wang Q, Zheng W, Ma J, Zhang W, Wang W, Tian X. He- mophagocytic lymphohistiocytosis: clinical analysis of 103 adult patients. Medicine (Baltimore). 2014;93(2):100-105. https://doi.org/10.1097/MD.0000000000000022
[15] La Rosée P, Horne A, Hines M, von Bahr Greenwood T, Macho- wicz R, Berliner N, Birndt S, Gil-Herrera J, Girschikofsky M, Jordan MB, Kumar A, van Laar JAM, Lachmann G, Nichols KE, Ramanan AV, Wang Y, Wang Z, Janka G, Henter JI. Recommen- dations for the management of hemophagocytic lymphohis- tiocytosis in adults. Blood. 2019;133(23):2465-2477.https:// doi.org/10.1182/blood.2018894618
[16] Singh S, Sivakumar R. Recent advances in the diagnosis of leishmaniasis. J Postgrad Med. 2003;49(1):55-60.https://doi. org/10.4103/0022-3859.927
[17] Sultanova AK, Kim SK, Lee JW, Jang PS, Chung NG, Cho B, Park J, Kim Y, Kim M. A Novel Syntaxin 11 Gene (STX11) Muta- tion c.650T>C, p.Leu217Pro, in a Korean Child With Famil- ial Hemophagocytic Lymphohistiocytosis. Ann Lab Med. 2016;36(2):170-3.https://doi.org/10.3343/alm.2016.36.2.170
[18] Janka GE. Familial hemophagocytic lymphohistiocytosis. Eur J Pediatr. 1983;140(3):221-30.https://doi.org/10.1007/ BF00443367
[19] Henter JI, Aricò M, Elinder G, Imashuku S, Janka G. Familial hemophagocytic lymphohistiocytosis. Primary hemophago- cytic lymphohistiocytosis. Hematol Oncol Clin North Am. 1998;12(2):417-33.https://doi.org/10.1016/S0889- 8588(05)70520-7
[20] Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286(5446):1957-9.https:// doi.org/10.1126/science.286.5446.1957
[21] zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Ka- bisch H, Schneppenheim R, Nürnberg P, Janka G, Hennies HC. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet. 2005;14(6):827-34.https://doi. org/10.1093/hmg/ddi076
[22] Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechen- steen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjöld M, Henter JI, Long EO, Ljunggren HG. Defective cytotoxic lymphocyte degranulation in syntax- in-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood. 2007;110(6):1906-15.https://doi. org/10.1182/blood-2007-02-074468
[23] Horne A, Ramme KG, Rudd E, Zheng C, Wali Y, al-Lamki Z, Gürgey A, Yalman N, Nordenskjöld M, Henter JI. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Hae- matol. 2008;143(1):75-83.https://doi.org/10.1111/j.1365- 2141.2008.07315.x
[24] Rudd E, Göransdotter Ericson K, Zheng C, Uysal Z, Ozkan A, Gürgey A, Fadeel B, Nordenskjöld M, Henter JI. Spectrum and clinical implications of syntaxin 11 gene mutations in familial hae- mophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. J Med Genet. 2006;43(4):e14.https://doi.org/10.1136/jmg.2005.035253
| Files | ||
| Issue | Vol 8 No 6 (2023): November-December | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/crcp.v8i6.16233 | |
| Keywords | ||
| Hemophagocytic Lymphohistiocytosis Leishman body STX11 | ||
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How to Cite
1.
Jafari M, Ghodsi M, Noory M, Mousavi Torshizi M, Kaji Yazdi M. A Case Report of lymphohistiocytic Hemophagocytosis Syndrome with Syntaxin11(STX11) Positive Gene and Co-Infection with Leishmania. CRCP. 2024;8(6):247-251.
